Varaico: Literature-Extracted Genetic Variants

Gene:FOXA1
Variant:p.M253L

FOXA1

436 papers

RefSeq Summary

This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific transcripts such as albumin and transthyret...

Pfam Domains

Forkhead_Naa 17–169UCSCForkhead N-terminal region
Forkheadaa 169–255UCSCForkhead domain
HNF_Caa 397–461UCSCHNF3 C-terminal domain

Gene Aliases

HGNC Name

forkhead box A1

HGNC Previous Symbol

HNF3A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004496.5
p.M253L
c.757A>C
Surrounding Variants
1 paper
NM_004496.5
p.M253fs
c.757_758fs
1 paper
NM_004496.5
p.M253L
c.757A>T
1 paper
NM_004496.5
p.M253V
c.757A>G
8 papers
NM_004496.5
p.M253R
c.758T>G
4 papers
NM_004496.5
p.M253T
c.758T>C
13 papers
NM_004496.5
p.M253K
c.758T>A
3 papers
NM_004496.5
p.N252del1
c.754_755delGTT
2 papers
NM_004496.5
p.N252fs
c.754_755fs
1 paper
NM_004496.5
p.S250_N252delins
c.750_756delinsGTTG
2 papers
NM_004496.5
p.M253fs
c.757_758fs
6 papers
NM_004496.5
p.F254V
c.760T>G
5 papers
NM_004496.5
p.F254L
c.760T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."